1 | IDMAN, SPTBN4
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| βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.
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| Wang CC, Ortiz-González XR, Yum SW, Gill SM, White A, Kelter E, Seaver LH, Lee S, Wiley G, Gaffney PM, Wierenga KJ, Rasband MN.
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| Am J Hum Genet 102(6):1158-1168. doi: 10.1016/j.ajhg.2018.04.012. Epub 2018 May 31.
2018
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2 | SPTBN4
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| DNA methylation map of mouse and human brain identifies target genes in Alzheimer's disease.
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| Sanchez-Mut JV, Aso E, Panayotis N, Lott I, Dierssen M, Rabano A, Urdinguio RG, Fernandez AF, Astudillo A, Martin-Subero JI, Balint B, Fraga MF, Gomez A, Gurnot C, Roux JC, Avila J, Hensch TK, Ferrer I, Esteller M.
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| Brain 136(Pt 10):3018-27. doi: 10.1093/brain/awt237. Epub 2013 Sep 11.
2013
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3 | ABCC8, ANK2, CAMK2A, CAMK2D, KCNJ11, SPTBN4
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| βIV-Spectrin and CaMKII facilitate Kir6.2 regulation in pancreatic beta cells.
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| Kline CF, Wright PJ, Koval OM, Zmuda EJ, Johnson BL, Anderson ME, Hai T, Hund TJ, Mohler PJ.
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| Proc Natl Acad Sci U S A 110(43):17576-81. doi: 10.1073/pnas.1314195110. Epub 2013 Oct 7.
2013
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4 | SPTBN4
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| The C-terminal domain of ßIV-spectrin is crucial for KCNQ2 aggregation and excitability at nodes of Ranvier.
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| Devaux JJ.
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| J Physiol 588(Pt 23):4719-30. doi: 10.1113/jphysiol.2010.196022. Epub 2010 Oct 20.
2010
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5 | ANK3, SPTBN4
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| betaIV spectrin is recruited to axon initial segments and nodes of Ranvier by ankyrinG.
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| Yang Y, Ogawa Y, Hedstrom KL, Rasband MN.
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| J Cell Biol 176(4):509-19. Epub 2007 Feb 5.
2007
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6 | SPTBN4
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| Specific role of the truncated betaIV-spectrin Sigma6 in sodium channel clustering at axon initial segments and nodes of ranvier.
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| Uemoto Y, Suzuki S, Terada N, Ohno N, Ohno S, Yamanaka S, Komada M.
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| J Biol Chem 282(9):6548-55. Epub 2006 Dec 29.
2007
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7 | SPTBN4
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| BetaIVSigma1 spectrin stabilizes the nodes of Ranvier and axon initial segments.
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| Lacas-Gervais S, Guo J, Strenzke N, Scarfone E, Kolpe M, Jahkel M, De Camilli P, Moser T, Rasband MN, Solimena M.
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| J Cell Biol 166(7):983-90. Epub 2004 Sep 20.
2004
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8 | SPTBN4
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| [Beta]IV-spectrin regulates sodium channel clustering through ankyrin-G at axon initial segments and nodes of Ranvier.
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| Komada M, Soriano P.
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| J Cell Biol 156(2):337-48. Epub 2002 Jan 21.
2002
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9 | SPTBN4
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| A new spectrin, beta IV, has a major truncated isoform that associates with promyelocytic leukemia protein nuclear bodies and the nuclear matrix.
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| Tse WT, Tang J, Jin O, Korsgren C, John KM, Kung AL, Gwynn B, Peters LL, Lux SE.
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| J Biol Chem 276(26):23974-85. Epub 2001 Apr 6.
2001
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10 | SPTBN4
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| betaIV spectrin, a new spectrin localized at axon initial segments and nodes of ranvier in the central and peripheral nervous system.
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| Berghs S, Aggujaro D, Dirkx R Jr, Maksimova E, Stabach P, Hermel JM, Zhang JP, Philbrick W, Slepnev V, Ort T, Solimena M.
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| J Cell Biol 151(5):985-1002. 2000
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